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Trial record 2 of 4 for:    Pseudohypoaldosteronism

Cardiovascular Evaluation of Adult PHA 1 Patients (PHACARV)

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ClinicalTrials.gov Identifier: NCT00646828
Recruitment Status : Completed
First Posted : March 31, 2008
Last Update Posted : January 19, 2012
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris

Brief Summary:
Vascular and cardiac alterations are associated with aldosterone effects are evidenced in experimental models and aldosterone receptor blockade is of clear benefit in cardiac disease (heart failure). The study aims at assessing vascular and cardiac alterations in adults with a chronic increase in circulating aldosterone without hypertension. The investigated population will be patients with a rare disease, pseudohypoaldosteronism type 1, due to heterozygous inactivating mutations of the mineralocorticoid receptor.

Condition or disease
Pseudohypoaldosteronism Type 1

Detailed Description:

The study includes adult patients with mineralocorticoid receptor mutation as compared with not affected relatives. It includes also relatives of adult relative of patients with PHA1 in whom no mutation was found. Cardiovascular evaluation is conducted with cardiac and vascular ultrasound assessment and cardiac NMR, ambulatory blood pressure measurement.

Protocol duration is 2 days . Detailed genetic study is conducted in family without identified mutation in MINERALORECEPTOR.

Study Type : Observational
Actual Enrollment : 98 participants
Observational Model: Family-Based
Time Perspective: Cross-Sectional
Official Title: Cardiovascular Evaluation of a Rare Condition With Hyperaldosteronism Without Hypertension: PHA 1
Study Start Date : May 2008
Primary Completion Date : May 2011
Study Completion Date : May 2011

Resource links provided by the National Library of Medicine

U.S. FDA Resources

without PHA1
patients without mineralocorticoid receptor mutation
patients with a rare disease, pseudohypoaldosteronism type 1, due to heterozygous inactivating mutations of the mineralocorticoid receptor

Primary Outcome Measures :
  1. Cardiac or vascular abnormality at ultrasound or NMR evaluation [ Time Frame: day one ]

Secondary Outcome Measures :
  1. Extracellular volume, biology, autonomic nervous system abnormality [ Time Frame: day one + day two ]
  2. New gene responsible for PHA1 [ Time Frame: day one ]

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
patient with Pseudohypoaldosteronism type 1 and the family of these patient who dont have mineralocorticoid receptor mutation

Inclusion criteria:

  • Age over 18
  • Male or female gender
  • Genotype in the PHA1.NET network

Exclusion criteria:

  • Not membership to a regime of Social Security or to a CMU
  • Against indication in the realization of a MRI
  • Cardiac NMR not possible
  • Known cardiovascular disease for person not carrying MR mutation

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00646828

Hôpital Bichat
Paris, France, 75018
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Principal Investigator: Brigitte ESCOUBET, MD Assistance Publique - Hôpitaux de Paris

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT00646828     History of Changes
Other Study ID Numbers: P070139
First Posted: March 31, 2008    Key Record Dates
Last Update Posted: January 19, 2012
Last Verified: July 2010

Keywords provided by Assistance Publique - Hôpitaux de Paris:
Pseudohypoaldosteronism type 1
Mineralocorticoid receptor
Cardiovascular disease

Additional relevant MeSH terms:
Renal Tubular Transport, Inborn Errors
Kidney Diseases
Urologic Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases
Hormones, Hormone Substitutes, and Hormone Antagonists
Physiological Effects of Drugs